| 國立成功大學 |
2023 |
Changing clinical manifestations of Gaucher disease in Taiwan
|
Lu, W.-L.;Chien, Y.-H.;Tsai, F.-J.;Hwu, W.-L.;Chou, Y.-Y.;Chu, S.-Y.;Li, M.-J.;Lee, A.-J.;Liao, C.-C.;Wang, C.-H.;Lee, N.-C. |
| 國立成功大學 |
2023 |
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases
|
Chen, Chen C.-B.;Hsu, J.S.;Chen, P.-L.;Wu, J.-F.;Li, H.-Y.;Liou, B.-Y.;Chang, M.-H.;Ni, Y.-H.;Hwu, W.-L.;Chien, Y.-H.;Chou, Y.-Y.;Yang, Yang Y.-J.;Lee, N.-C.;Chen, H.-L. |
| 國立成功大學 |
2023 |
Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease
|
Li, H.-Y.;Lee, N.-C.;Chiu, Y.-T.;Chang, Y.-W.;Lin, C.-C.;Chou, Chou C.-L.;Chien, Y.-H.;Hwu, W.-L.;Cheng, W.-C. |
| 臺大學術典藏 |
2022-09-06T07:43:53Z |
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
|
Tsai C.-W.; Yang C.-C.; Chen H.-L.; Hwu W.-L.; Wu M.-Z.; Liu K.-L.; MING-SHIANG WU |
| 臺大學術典藏 |
2022-09-06T02:56:09Z |
Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan
|
YIN-HSIU CHIEN; Lee N.-C.; Weng W.-C.; Chen L.-C.; Huang Y.-H.; Wu C.-S.; Hwu W.-L. |
| 臺大學術典藏 |
2022-09-06T02:56:09Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
Lee N.-C.; YIN-HSIU CHIEN; Wang C.-H.; Wong S.-L.; Peng S.S.-F.; Tsai F.-J.; Hwu W.-L. |
| 臺大學術典藏 |
2022-09-06T02:56:07Z |
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
|
Chen H.-A.; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; Lee N.-C.; Hwu W.-L.; Chiu P.-C.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-09-06T02:56:07Z |
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
|
Chen H.-A.; Hsu R.-H.; Chen P.-W.; Lee N.-C.; Chiu P.-C.; Hwu W.-L.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-09-06T02:56:06Z |
Comparison of GATK and DeepVariant by trio sequencing
|
Lin Y.-L.; Chang P.-C.; Hsu C.; Hung M.-Z.; YIN-HSIU CHIEN; Hwu W.-L.; Lai F.P.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:46:04Z |
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation
|
Chen C.-A.; Tang N.L.S.; YIN-HSIU CHIEN; Zhang W.-M.; Wang J.-K.; Hwu W.-L. |
